raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:695147

Sickle cell-beta plus-thalassemia

Synonyms: HbS-beta plus-thalassemia · HbS-beta+ thalassemia

Type
Etiological subtype
Group
Subtype of disorder
Inheritance
Autosomal recessive
Status
active

Orphadata ships no English definition for this code.

1

Names in Orphadata languages

9 of 12 languages
LangNameSynonyms
enSickle cell-beta plus-thalassemiaHbS-beta plus-thalassemia · HbS-beta+ thalassemia
frDrépanocytose-bêta plus-thalassémieHbS-bêta plus-thalassémie · HbS-bêta+ thalassémie
deSichelzellen-beta-plus-ThalassämieHb-S-beta+-Thalassämie
esTalasemia falciforme beta-plusTalasemia HbS beta+ · Talasemia HbS beta-plus · Talasemia de células falciformes beta-plus
itFalcemia-beta plus-talassemiaHbS-beta plus-talassemia · HbS-beta+ talassemia
nlSikkelcel-bèta plus-thalassemieHbS-bèta plus-thalassemie · HbS-bèta+-thalassemie
ptHbS-beta-plus-thalassemia
plSickle cell-beta plus-thalassemia= en
csSickle cell-beta plus-thalassemia= en
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
ICD-10D57.2NTBTattributedvalidated
ICD-113A51.3NTBTattributedvalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

No children.

4

Genes

1 direct
GeneAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
HBBDisease-causing germline mutation(s) inAssessedHGNC:4827ENSG0000024473414190011p15.4hemoglobin subunit beta34567471[PMID]
5

Prevalence and incidence

0 records

No prevalence record in this release.

6

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

7

Sources for this card